DGKD, diacylglycerol kinase delta, 8527

N. diseases: 18; N. variants: 37
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1550532
rs1550532
2 233356202 intron variant C/G snv 0.75
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement
0.800 1.000 3 2009 2010
dbSNP: rs1550532
rs1550532
2 233356202 intron variant C/G snv 0.75
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result
0.700 1.000 2 2009 2009
dbSNP: rs1550532
rs1550532
2 233356202 intron variant C/G snv 0.75
CUI: C0201925
Disease: Calcium measurement
Calcium measurement
0.800 1.000 1 2013 2013
dbSNP: rs1550532
rs1550532
2 233356202 intron variant C/G snv 0.75
CUI: C0428302
Disease: Calcium level result
Calcium level result
0.700 1.000 1 2013 2013
dbSNP: rs34339006
rs34339006
1.000 0.040 2 233362876 intron variant C/T snv 0.32
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle
Eye Diseases 0.700 1.000 1 2018 2018
dbSNP: rs34339006
rs34339006
1.000 0.040 2 233362876 intron variant C/T snv 0.32
CUI: C0201925
Disease: Calcium measurement
Calcium measurement
0.700 1.000 1 2018 2018
dbSNP: rs1441093
rs1441093
2 233363838 intron variant A/G snv 0.82
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement
0.700 1.000 1 2009 2009
dbSNP: rs1441093
rs1441093
2 233363838 intron variant A/G snv 0.82
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result
0.700 1.000 1 2009 2009
dbSNP: rs838705
rs838705
2 233364596 intron variant G/A;C snv
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement
0.700 1.000 1 2009 2009
dbSNP: rs838705
rs838705
2 233364596 intron variant G/A;C snv
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result
0.700 1.000 1 2009 2009
dbSNP: rs7573866
rs7573866
2 233367570 intron variant T/C snv 0.12
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result
0.700 1.000 1 2009 2009
dbSNP: rs7573866
rs7573866
2 233367570 intron variant T/C snv 0.12
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement
0.700 1.000 1 2009 2009
dbSNP: rs7576633
rs7576633
2 233370606 intron variant C/G snv 0.23
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement
0.700 1.000 1 2009 2009
dbSNP: rs7576633
rs7576633
2 233370606 intron variant C/G snv 0.23
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result
0.700 1.000 1 2009 2009
dbSNP: rs7566221
rs7566221
2 233370649 intron variant G/A;C snv
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result
0.700 1.000 1 2009 2009
dbSNP: rs7566221
rs7566221
2 233370649 intron variant G/A;C snv
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement
0.700 1.000 1 2009 2009
dbSNP: rs6759246
rs6759246
2 233372793 intron variant G/C snv 0.22
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement
0.700 1.000 1 2009 2009
dbSNP: rs6759246
rs6759246
2 233372793 intron variant G/C snv 0.22
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result
0.700 1.000 1 2009 2009
dbSNP: rs6722763
rs6722763
2 233373564 intron variant A/C;G snv
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result
0.700 1.000 1 2009 2009
dbSNP: rs6722763
rs6722763
2 233373564 intron variant A/C;G snv
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement
0.700 1.000 1 2009 2009
dbSNP: rs7580412
rs7580412
2 233374642 intron variant T/C snv 0.24
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result
0.700 1.000 1 2009 2009
dbSNP: rs7580412
rs7580412
2 233374642 intron variant T/C snv 0.24
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement
0.700 1.000 1 2009 2009
dbSNP: rs838708
rs838708
2 233375753 intron variant G/A snv 0.74
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result
0.700 1.000 2 2009 2009
dbSNP: rs838708
rs838708
2 233375753 intron variant G/A snv 0.74
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement
0.700 1.000 2 2009 2009
dbSNP: rs838709
rs838709
2 233376098 intron variant C/A;T snv
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement
0.700 1.000 1 2009 2009